E56D (p.Glu56Asp) variant of CD40LG (CD40 ligand)
E56D (p.Glu56Asp) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- TOPMed rs2076100334
- gnomAD rs2076100334
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.25
- MetaLR 0.36
- MetaSVM -0.33
- CADD 23.40
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available